ORPHA:644
NARP syndrome
Synonyms: Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome · Neuropathy-ataxia-retinitis pigmentosa syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Mitochondrial inheritance
- Age of onset
- Childhood
- Status
- active
A clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | NARP syndrome | Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome · Neuropathy-ataxia-retinitis pigmentosa syndrome |
| fr | Syndrome NARP | Syndrome de neuropathie-ataxie-rétinite pigmentaire |
| de | NARP-Syndrom | Neuropathie - Ataxie - Retinitis pigmentosa |
| es | Síndrome de NARP | Debilidad muscular neurogénica-ataxia-retinosis pigmentaria · Neuropatía-ataxia-retinosis pigmentaria |
| it | Sindrome NARP | Debolezza muscolare neurogena - atassia - retinite pigmentosa · Neuropatia - atassia - retinite pigmentosa |
| nl | NARP-syndroom | Neurogene spierzwakte - ataxie - retinitis pigmentosa-syndroom · Neuropathie - ataxie - retinitis pigmentosa-syndroom |
| pt | Síndrome NARP | Síndrome Leigh mitocondrial · Síndrome MILS · Síndrome de neuropatia-ataxia-retinite pigmentosa |
| pl | Zespół NARP | Neurogenna słabość mięśni - ataksja - zwyrodnienie barwnikowe siatkówki · Neuropatia - ataksja - zwyrodnienie barwnikowe siatkówki |
| cs | Syndrom NARP | Neurogenní svalová slabost s ataxií a retinitis pigmentosa · Syndrom zahrnující neuropatii, ataxii a retinitis pigmentosa |
| uk | NARP-синдром | Синдром нейрогенної мязової слабкості-атаксії-пігментної дегенерації сітківки · Синдром нейропатії-атаксії-пігментної дегенерації сітківки |
| zh | NARP综合征 | 神经源性肌无力-共济失调-色素性视网膜病变综合征 |
| tr | NARP sendromu | Nöropati-ataksi-retinitis pigmentosa sendromu · Nörojenik kas güçsüzlüğü-ataksi-retinitis pigmentoza sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 551500 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 8C73.1 | E | specific | validated |
| MONDO | 0010794 | E | validated | |
| MeSH | C537396 | E | validated | |
| UMLS | C1328349 | E | validated | |
| GARD | 262 | E | validated | |
| MedDRA | 10062940 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:225700Mitochondrial disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:225703Mitochondrial disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:254776Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MT-ATP6 | Disease-causing germline mutation(s) in | Assessed | HGNC:7414 | ENSG00000198899 | 516060 | mitochondria | mitochondrially encoded ATP synthase membrane subunit 6 | 20301352[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
28 annotations · validated 2018-07-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0012751 | Abnormal basal ganglia MRI signal intensity | |
| HP:0030588 | Abnormal visual field test | |
| HP:0001251 | Ataxia | |
| HP:0003487 | Babinski sign | |
| HP:0000618 | Blindness | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0001133 | Constriction of peripheral visual field | |
| HP:0007117 | Corticospinal tract atrophy | |
| HP:0000726 | Dementia | |
| HP:0001263 | Global developmental delay | |
| HP:0002315 | Headache | |
| HP:0000365 | Hearing impairment | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000737 | Irritability | |
| HP:0003394 | Muscle spasm | |
| HP:0003739 | Myoclonic spasms | |
| HP:0000639 | Nystagmus | |
| HP:0000543 | Optic disc pallor | |
| HP:0007240 | Progressive gait ataxia | |
| HP:0003701 | Proximal muscle weakness | |
| HP:0001136 | Retinal arteriolar tortuosity | |
| HP:0007814 | Retinal pigment epithelial mottling | |
| HP:0000510 | Rod-cone dystrophy | |
| HP:0001250 | Seizure | |
| HP:0000763 | Sensory neuropathy | |
| HP:0004322 | Short stature | |
| HP:0002119 | Ventriculomegaly | |
| Excluded (0%) | ||
| HP:0008316 | Abnormal mitochondria in muscle tissue | |
Annotation source: 19124644[PMID]_2137962[PMID]_19124644[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/644
- This record as JSON: /data/d/644.json